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mutLBSgeneDB |
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| Gene summary for CYB5R4 |
 Gene summary |
| Basic gene Info. | Gene symbol | CYB5R4 |
| Gene name | cytochrome b5 reductase 4 | |
| Synonyms | NCB5OR|cb5/cb5R|dJ676J13.1 | |
| Cytomap | UCSC genome browser: 6pter-q22.33 | |
| Type of gene | protein-coding | |
| RefGenes | NM_016230.3, | |
| Description | N-terminal cytochrome b5 and cytochrome b5 oxidoreductase domain-containing proteinNADPH cytochrome B5 oxidoreductasecytochrome b-type NAD(P)H oxidoreductaseflavohemoprotein b5+b5Rflavohemoprotein b5/b5R | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 608343 | |
| HGNC : HGNC | ||
| HPRD : 12218 | ||
| Protein | UniProt: Q7L1T6 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CYB5R4 | |
| BioGPS: 51167 | ||
| Pathway | NCI Pathway Interaction Database: CYB5R4 | |
| KEGG: CYB5R4 | ||
| REACTOME: CYB5R4 | ||
| Pathway Commons: CYB5R4 | ||
| Context | iHOP: CYB5R4 | |
| ligand binding site mutation search in PubMed: CYB5R4 | ||
| UCL Cancer Institute: CYB5R4 | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0006091 | generation of precursor metabolites and energy | 10611283 | GO:0006801 | superoxide metabolic process | 10611283 | GO:0055114 | oxidation-reduction process | 15131110 |
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| Ligand binding site mutations for CYB5R4 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | A99 | A99T | KIRC | 1 | Y85 | M86I | LUAD | 1 | H112 | R113C | STAD | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for CYB5R4 |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | H112 | R113C | -1.1457665 | A99 | A99T | -1.0367207 | Y85 | M86I | -0.41522482 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for CYB5R4 from PDB |
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| Differential gene expression and gene-gene network for CYB5R4 |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for CYB5R4 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0017661 | Glomerulonephritis, IGA | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for CYB5R4 |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of CYB5R4 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | HEM | HEME B | 3lf5 | A | Y85 A99 H112 | HEM | HEME B | 3lf5 | B | Y85 H112 |
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| Conservation information for LBS of CYB5R4 |
| Multiple alignments for Q7L1T6 in multiple species |
| LBS | AA sequence | # species | Species | A99 | DELMRAAGSDG | 2 | Homo sapiens, Bos taurus | A99 | DELMRAAGADG | 2 | Mus musculus, Rattus norvegicus | A99 | EELMRAAGIDS | 1 | Danio rerio | A99 | EELMKAAGRDG | 1 | Xenopus tropicalis | E95 | PGGEDELMRAA | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | E95 | PGGEEELMRAA | 1 | Danio rerio | E95 | PGGEEELMKAA | 1 | Xenopus tropicalis | F108 | DGTDLFDQVHR | 2 | Xenopus tropicalis, Bos taurus | F108 | DGTDLFNEVHR | 2 | Mus musculus, Rattus norvegicus | F108 | DGTELFDQVHR | 1 | Homo sapiens | F108 | DSTDLFDEVHR | 1 | Danio rerio | G104 | AAGADGTDLFN | 2 | Mus musculus, Rattus norvegicus | G104 | AAGSDGTELFD | 1 | Homo sapiens | G104 | AAGIDSTDLFD | 1 | Danio rerio | G104 | AAGRDGTDLFD | 1 | Xenopus tropicalis | G104 | AAGSDGTDLFD | 1 | Bos taurus | G91 | MEYHPGGEDEL | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | G91 | MDFHPGGEEEL | 1 | Danio rerio | G91 | MEYHPGGEEEL | 1 | Xenopus tropicalis | H112 | LFDQVHRWVNY | 3 | Homo sapiens, Xenopus tropicalis, Bos taurus | H112 | LFNEVHRWVNY | 2 | Mus musculus, Rattus norvegicus | H112 | LFDEVHRWVNY | 1 | Danio rerio | H89 | PYMEYHPGGED | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | H89 | AYMDFHPGGEE | 1 | Danio rerio | H89 | PYMEYHPGGEE | 1 | Xenopus tropicalis | L107 | ADGTDLFNEVH | 2 | Mus musculus, Rattus norvegicus | L107 | SDGTELFDQVH | 1 | Homo sapiens | L107 | IDSTDLFDEVH | 1 | Danio rerio | L107 | RDGTDLFDQVH | 1 | Xenopus tropicalis | L107 | SDGTDLFDQVH | 1 | Bos taurus | L121 | NYESMLKECLV | 5 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus, Bos taurus | L121 | NYESMLKECLI | 1 | Xenopus tropicalis | L96 | GGEDELMRAAG | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | L96 | GGEEELMRAAG | 1 | Danio rerio | L96 | GGEEELMKAAG | 1 | Xenopus tropicalis | M120 | VNYESMLKECL | 6 | Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus, Rattus norvegicus, Bos taurus | P90 | YMEYHPGGEDE | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | P90 | YMDFHPGGEEE | 1 | Danio rerio | P90 | YMEYHPGGEEE | 1 | Xenopus tropicalis | R98 | EDELMRAAGSD | 2 | Homo sapiens, Bos taurus | R98 | EDELMRAAGAD | 2 | Mus musculus, Rattus norvegicus | R98 | EEELMRAAGID | 1 | Danio rerio | R98 | EEELMKAAGRD | 1 | Xenopus tropicalis | V111 | DLFDQVHRWVN | 2 | Xenopus tropicalis, Bos taurus | V111 | DLFNEVHRWVN | 2 | Mus musculus, Rattus norvegicus | V111 | ELFDQVHRWVN | 1 | Homo sapiens | V111 | DLFDEVHRWVN | 1 | Danio rerio | V115 | QVHRWVNYESM | 3 | Homo sapiens, Xenopus tropicalis, Bos taurus | V115 | EVHRWVNYESM | 3 | Danio rerio, Mus musculus, Rattus norvegicus | Y117 | HRWVNYESMLK | 6 | Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus, Rattus norvegicus, Bos taurus | Y85 | YNVSPYMEYHP | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | Y85 | YNLSAYMDFHP | 1 | Danio rerio | Y85 | YNITPYMEYHP | 1 | Xenopus tropicalis |
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